ACTA ENDOCRINOLOGICA (BUC)

The subCarpathian areas of Arges county are now characterized by a moderate endemia of iodine deficiency disorders (IDD) due to salt iodization. However, we found some cases of endemic cretinism (EC), that is the major expression of anomalies in the physical and intellectual development caused by a severe iodine deficiency. There are presented 5 patients, 4 men and 1 woman, with neurological endemic cretinism (NEC) (n=2) and mixed forms of the disease (n=3), coming from 2 old endemic areas (medium urinary iodine excretion in the studied patients 20.8 g/day), diagnosed and treated in outpatients clinics or in hospitals. Four patients are members of the same family. The age of the patients is between 36 and 84 years old, the average age being 69. The intellectual capacity was assessed by using the Wechsler and Raven tests, the average intelligence quotient (IQ) value was of 20.8 points ? 1.47. The thyroid volumes (TV) were estimated by palpatory method and by ultrasonography and were between 8.7-200 ml. TSH values in studied patients ranged between 3.8-26 IU/ml and free T4 ranged between 0.272-1.22 ng/dl. Aggregation of more cases of endemic cretinism in the same family suggests the occurrence of some genetic factors. In conclusion, the old age (over 70 years old) of 4 cretins shows they are remnants of the old IDD endemia. However, there is also an isolated case of middle age (36 years old) suggesting an inadequate iodine intake, despite a law regarding salt iodization which has been operating since 1962. More attention to the universal salt iodization and to consumption of iodized salt in the rural areas is necessary.

Adrenoleukodystrophy (ALD) is a hereditary metabolic disease X-linked (Xq28) with autosomal recessive traits, secondary to a mutation in the ABCD1 gene. The case of a boy aged 7 years and 10 months admitted for vision disturbances, muscle weakness, balance disturbances and spastic paraparesis is presented. Seventeen months prior to this admission, the child was diagnosed with acute adrenal insufficiency and was still on replacement therapy with dexamethasone and fludrocortisone. While on therapy the child presented several relapses that required treatment correction. MRI revealed cerebral atrophy lesions, which, together with the laboratory findings and clinical symptoms, conducted the diagnosis of ALD. This diagnosis was also supported by the pathogenic mutation detected in the ACBD1 gene identified in the pacient and patient?s mother and sister. The child died 8 months after the onset of neurological signs. Childhood ALD is classified as classical ALD form, the most frequent, affecting only boys aged 4 to 10 years. Family screening obliged by the identification of the homozygotes is helpful for the early therapy of heterozygotes, genetic counseling and disease prevention. The prognosis is still poor, the available treatment being hormone substitution therapy and psychological support.

Context. Nonalcoholic fatty liver disease is common in type 2 diabetes mellitus patients, being difficult to diagnose. Objective. To find a correlation between elastographic parameters and lab results, for facilitating the diagnosis of nonalcoholic fatty liver disease. Design. This is a cross sectional study, conducted at the Departments of Diabetes, Nutrition and Metabolic Diseases, and Gastroenterology and Hepatology, of the Clinical Emergency Hospital “Pius Brinzeu” Timisoara. Subjects and Methods. We included 190 type 2 diabetes mellitus patients, collected data regarding medical history, clinical and biological features and applied the Alcohol Use Disorders Identification Test. We excluded patients with other causes of liver disease. Liver steatosis and fibrosis were evaluated through transient elastography, yielding two parameters: liver stiffness as an indicator of liver fibrosis stage, expressed in kPa, and liver steatosis stage, assessed by controlled attenuation parameter, expressed in dB/m. Data were analyzed using SPSS 15. Results. The analyzed group comprised 113 patients. Elastographic measurements showed that 93.8% of the patients had steatosis (controlled attenuation parameter ≥232.5 dB/m) and 70.8% severe steatosis (controlled attenuation parameter ≥290 dB/m). Severe steatosis was more common in women (75.7%) than in men (68.1%) (p<0.0001). From the patients with steatosis, 47.2% had liver stiffness values suggestive for fibrosis and 19.8% for cirrhosis. Most patients with steatosis and severe fibrosis were obese (66.7%). Triglycerides/HDLc ratio >4 correlated with hepatic steatosis (p=0.04), being more common in patients with severe fibrosis/cirrhosis (58.3%) than in those with absent or mild fibrosis (36.2%). Conclusions. Our study found a clear correlation between type 2 diabetes mellitus and the presence of liver steatosis. It correlates with body mass index, waist circumference (in men) and triglycerides/HDLc ratio. Controlled attenuation parameter is a useful noninvasive method for detection and quantification of liver steatosis.

Background. Small-cell lung carcinoma is a neuroendocrine tumor that exhibits aggressive behavior, rapid growth, early spread to distant sites and frequent association with paraneoplastic syndromes, the most frequent being the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Case report. We present the case of a 66 year-old woman who presented to the Emergency Department for a syncope preceded by vomiting. She had onemonth history of progressive confusion, disorientation, drowsiness, and generalized malaise. At presentation, the biochemical profile showed normal hemogram values, severe hyponatremia (seric sodium level 120 mg/dL), low plasma osmolality (<275 mOsm/ kg). The blood tests for kidney, thyroid and adrenal functions were in normal limits. There was no evidence of congestive heart failure or nephrotic syndrome. A diagnosis of SIADH was made. Because of a high suspicion for lung cancer, chest computed tomography (CT) was done, together with neck, abdominal and pelvic CT scan, all showing normal data, excepting necrotic lymph nodes in the lower right carotid space and right paratracheal. Right laterocervical lymph node biopsy was done. The histopathological and immunohistochemical result showed lymph node metastasis of a neuroendocrine small cell carcinoma, most probably with broncho-pulmonary origin. Conclusion. The case is interesting due to long term absence of any respiratory symptom, absence of identification of pulmonary tumor, despite repeated CT scans, the only clinical manifestations being related to SIADH. Also, it emphasizes the importance of early recognition of SIADH, which may be the only initial manifestation of a neuroendocrine small cell carcinoma.